CETN3
gene geneOn this page
Also known as CEN3
Summary
CETN3 (centrin 3, HGNC:1868) is a protein-coding gene on chromosome 5q14.3, encoding Centrin-3 (O15182). Plays a fundamental role in microtubule-organizing center structure and function.
The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 1070 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 22 total
- MANE Select transcript:
NM_004365
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1868 |
| Approved symbol | CETN3 |
| Name | centrin 3 |
| Location | 5q14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CEN3 |
| Ensembl gene | ENSG00000153140 |
| Ensembl biotype | protein_coding |
| OMIM | 602907 |
| Entrez | 1070 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 14 protein_coding, 1 nonsense_mediated_decay
ENST00000283122, ENST00000518458, ENST00000522083, ENST00000522565, ENST00000522842, ENST00000522864, ENST00000909756, ENST00000909757, ENST00000919887, ENST00000919888, ENST00000919889, ENST00000919890, ENST00000919891, ENST00000919892, ENST00000919893
RefSeq mRNA: 3 — MANE Select: NM_004365
NM_001297765, NM_001297768, NM_004365
CCDS: CCDS4066, CCDS75274, CCDS78036
Canonical transcript exons
ENST00000283122 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001009040 | 90409645 | 90409756 |
| ENSE00001009041 | 90405685 | 90405799 |
| ENSE00001009043 | 90407699 | 90407834 |
| ENSE00001266530 | 90392257 | 90394107 |
| ENSE00003666848 | 90399358 | 90399549 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 99.09.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.5221 / max 1085.4831, expressed in 1790 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 62521 | 31.6679 | 1785 |
| 62518 | 0.4760 | 266 |
| 62520 | 0.3782 | 139 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 99.09 | gold quality |
| adult organism | UBERON:0007023 | 98.82 | gold quality |
| left testis | UBERON:0004533 | 98.77 | gold quality |
| right testis | UBERON:0004534 | 98.77 | gold quality |
| testis | UBERON:0000473 | 97.66 | gold quality |
| secondary oocyte | CL:0000655 | 97.40 | gold quality |
| bronchial epithelial cell | CL:0002328 | 97.35 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 96.98 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 96.84 | gold quality |
| ventricular zone | UBERON:0003053 | 96.57 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.32 | gold quality |
| sperm | CL:0000019 | 96.29 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.88 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 95.85 | gold quality |
| male germ cell | CL:0000015 | 95.81 | gold quality |
| parietal pleura | UBERON:0002400 | 95.57 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.57 | gold quality |
| bronchus | UBERON:0002185 | 95.53 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 95.51 | gold quality |
| embryo | UBERON:0000922 | 95.46 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.22 | gold quality |
| pleura | UBERON:0000977 | 95.01 | gold quality |
| visceral pleura | UBERON:0002401 | 94.87 | gold quality |
| endometrium | UBERON:0001295 | 94.81 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.59 | gold quality |
| caput epididymis | UBERON:0004358 | 94.40 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 94.19 | gold quality |
| corpus epididymis | UBERON:0004359 | 94.04 | gold quality |
| seminal vesicle | UBERON:0000998 | 93.98 | gold quality |
| corpus callosum | UBERON:0002336 | 93.91 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.73 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
56 targeting CETN3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-199A-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-199B-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-3129-5P | 99.75 | 70.46 | 914 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-651-5P | 99.64 | 68.49 | 1104 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-3923 | 99.52 | 69.21 | 446 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
Literature-anchored findings (GeneRIF, showing 2)
- could be classified as a Ca(2+) sensor protein (PMID:15654740)
- Cetn3 inhibits Mps1 autophosphorylation at Thr-676, a known site of T-loop autoactivation, and interferes with Mps1-dependent phosphorylation of Cetn2. The cellular overexpression of Cetn3 attenuates the incorporation of Cetn2 into centrioles and centrosome reduplication, whereas depletion of Cetn3 generates extra centrioles. (PMID:26354417)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cetn3 | ENSDARG00000011825 |
| mus_musculus | Cetn3 | ENSMUSG00000021537 |
| rattus_norvegicus | Cetn3 | ENSRNOG00000050877 |
| drosophila_melanogaster | TpnC4 | FBGN0033027 |
| caenorhabditis_elegans | WBGENE00000285 | |
| caenorhabditis_elegans | WBGENE00000287 | |
| caenorhabditis_elegans | pat-10 | WBGENE00003934 |
| caenorhabditis_elegans | WBGENE00006583 | |
| caenorhabditis_elegans | WBGENE00008453 | |
| caenorhabditis_elegans | F35C12.3 | WBGENE00009408 |
| caenorhabditis_elegans | WBGENE00015264 |
Paralogs (20): CABP7 (ENSG00000100314), CABP5 (ENSG00000105507), CALML4 (ENSG00000129007), CALM2 (ENSG00000143933), CETN2 (ENSG00000147400), CABP1 (ENSG00000157782), CALM3 (ENSG00000160014), CABP2 (ENSG00000167791), CALML6 (ENSG00000169885), EFCAB3 (ENSG00000172421), EFCAB12 (ENSG00000172771), CABP4 (ENSG00000175544), CETN1 (ENSG00000177143), CALML3 (ENSG00000178363), CALML5 (ENSG00000178372), CALN1 (ENSG00000183166), CALM1 (ENSG00000198668), EFCAB2 (ENSG00000203666), EFCAB7 (ENSG00000203965), EFCAB9 (ENSG00000214360)
Protein
Protein identifiers
Centrin-3 — O15182 (reviewed: O15182)
All UniProt accessions (6): O15182, E5RFM2, E5RH67, E5RJF8, E5RK82, H0YBL5
UniProt curated annotations — full annotation on UniProt →
Function. Plays a fundamental role in microtubule-organizing center structure and function. As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores.
Subunit / interactions. Monomer. Component of the nuclear pore complex (NPC)-associated TREX-2 complex (transcription and export complex 2), composed of at least GANP, 2 copies of ENY2, PCID2, SEM1/DSS1, and either centrin CETN2 or centrin CETN3. The TREX-2 complex also associates with ALYREF/ALY and with the nucleoporin NUP153. Interacts with USP49.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Nucleus. Nucleolus. Nucleus envelope. Nuclear pore complex. Centriole.
Similarity. Belongs to the centrin family.
RefSeq proteins (3): NP_001284694, NP_001284697, NP_004356* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR050230 | CALM/Myosin/TropC-like | Family |
Pfam: PF13499
UniProt features (12 total): binding site 5, domain 4, chain 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15182-F1 | 88.95 | 0.79 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (5): 147; 149; 151; 153; 158
Post-translational modifications (1): 135
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 202 (showing top):
PAL_PRMT5_TARGETS_UP, MORF_BRCA1, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, KAUFFMANN_DNA_REPAIR_GENES, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NUCLEAR_TRANSPORT, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, MORF_PPP5C, GOCC_CENTROSOME, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP
GO Biological Process (5): microtubule cytoskeleton organization (GO:0000226), centrosome cycle (GO:0007098), protein transport (GO:0015031), mRNA transport (GO:0051028), cell division (GO:0051301)
GO Molecular Function (5): calcium ion binding (GO:0005509), microtubule binding (GO:0008017), G-protein beta/gamma-subunit complex binding (GO:0031683), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (14): nucleolus (GO:0005730), centrosome (GO:0005813), centriole (GO:0005814), microtubule organizing center (GO:0005815), photoreceptor connecting cilium (GO:0032391), ciliary basal body (GO:0036064), nuclear pore nuclear basket (GO:0044615), transcription export complex 2 (GO:0070390), nucleus (GO:0005634), nuclear envelope (GO:0005635), nuclear pore (GO:0005643), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), ciliary transition zone (GO:0035869)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 3 |
| microtubule organizing center | 3 |
| cellular anatomical structure | 3 |
| nuclear protein-containing complex | 3 |
| cilium | 2 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| cell cycle process | 1 |
| microtubule organizing center organization | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| RNA transport | 1 |
| cellular process | 1 |
| metal ion binding | 1 |
| tubulin binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| centriole | 1 |
| microtubule cytoskeleton | 1 |
| ciliary transition zone | 1 |
| photoreceptor cell cilium | 1 |
| nuclear pore | 1 |
| intracellular membrane-bounded organelle | 1 |
| nucleus | 1 |
| endomembrane system | 1 |
| organelle envelope | 1 |
| nuclear envelope | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
3223 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CETN3 | SFI1 | A8K8P3 | 914 |
| CETN3 | MCM3AP | O60318 | 899 |
| CETN3 | ENY2 | Q9NPA8 | 899 |
| CETN3 | PCID2 | Q5JVF3 | 864 |
| CETN3 | SASS6 | Q6UVJ0 | 699 |
| CETN3 | FBXL13 | Q8NEE6 | 680 |
| CETN3 | RPS4X | P12631 | 640 |
| CETN3 | PHKA1 | P46020 | 638 |
| CETN3 | SEM1 | Q6ZVN7 | 635 |
| CETN3 | POC5 | Q8NA72 | 624 |
| CETN3 | CEP164 | Q9UPV0 | 622 |
| CETN3 | CEP63 | Q96MT8 | 617 |
| CETN3 | PCNT | O95613 | 614 |
| CETN3 | PLK4 | O00444 | 606 |
| CETN3 | CEP135 | Q66GS9 | 604 |
| CETN3 | CENPA | P49450 | 604 |
IntAct
136 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZWINT | NDC80 | psi-mi:“MI:0914”(association) | 0.940 |
| POC5 | CETN3 | psi-mi:“MI:0915”(physical association) | 0.920 |
| CETN3 | POC5 | psi-mi:“MI:0915”(physical association) | 0.920 |
| POC5 | CETN3 | psi-mi:“MI:0914”(association) | 0.920 |
| CETN3 | POC5 | psi-mi:“MI:0915”(physical association) | 0.770 |
| POC5 | CETN3 | psi-mi:“MI:0914”(association) | 0.770 |
| CETN2 | SFI1 | psi-mi:“MI:0914”(association) | 0.740 |
| XPC | CETN3 | psi-mi:“MI:0914”(association) | 0.730 |
| CETN3 | SGSM1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SGSM1 | CETN3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CETN1 | SFI1 | psi-mi:“MI:0914”(association) | 0.640 |
| RHOD | PLXNB2 | psi-mi:“MI:0914”(association) | 0.640 |
| BCKDK | CETN3 | psi-mi:“MI:0914”(association) | 0.640 |
| DCAF12L2 | CETN3 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (111): SGSM1 (Two-hybrid), POC5 (Two-hybrid), CETN3 (Affinity Capture-MS), CETN3 (Affinity Capture-MS), CETN3 (Affinity Capture-MS), CETN3 (Affinity Capture-MS), CETN3 (Affinity Capture-MS), CETN3 (Affinity Capture-MS), CETN3 (Affinity Capture-MS), CETN3 (Affinity Capture-MS), CETN3 (Affinity Capture-MS), CETN3 (Two-hybrid), CETN3 (Proximity Label-MS), CETN3 (Affinity Capture-MS), CETN3 (Affinity Capture-MS)
ESM2 similar proteins: A0A125YHX7, A0A125YZN2, J9W034, O15182, O23184, O35648, O74435, O82659, P02597, P02599, P04352, P05434, P05933, P06704, P27163, P27164, P27482, P41041, P41208, P41209, P41210, P43645, P43646, P49258, P53440, P53441, P54213, P60204, P60205, P60206, P61859, P61860, P61861, Q06827, Q12798, Q24956, Q27177, Q27178, Q27179, Q2TBN3
Diamond homologs: A0A125YHX7, A0A125YZN2, A2WN93, A2WNH1, A2Y609, A3E3H0, A3E4D8, A3E4F9, A4UHC0, A8CEP3, A8I1Q0, J9W034, O15182, O23184, O35648, O60041, O74435, O82018, O82659, O94739, O96102, P02597, P02598, P04352, P04353, P04464, P05419, P05434, P06704, P06787, P07463, P0DH95, P0DH96, P0DH97, P0DH98, P11120, P11121, P13868, P15094, P17928
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CCP110 | “up-regulates activity” | CETN3 | binding |
| PCM1 | up-regulates | CETN3 | relocalization |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 89 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 5 | 13.9× | 4e-03 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 5 | 13.9× | 4e-03 |
| AURKA Activation by TPX2 | 5 | 13.4× | 4e-03 |
| Recruitment of mitotic centrosome proteins and complexes | 5 | 11.9× | 5e-03 |
| Regulation of PLK1 Activity at G2/M Transition | 5 | 11.1× | 6e-03 |
| Recruitment of NuMA to mitotic centrosomes | 5 | 10.2× | 8e-03 |
| Anchoring of the basal body to the plasma membrane | 5 | 9.9× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| centriole replication | 6 | 57.1× | 2e-07 |
| regulation of cytokinesis | 7 | 38.3× | 2e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
22 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 15 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1010 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:90394108:C:CC | acceptor_gain | 1.0000 |
| 5:90399356:A:AC | donor_gain | 1.0000 |
| 5:90399357:C:CC | donor_gain | 1.0000 |
| 5:90399357:CTTT:C | donor_gain | 1.0000 |
| 5:90399545:TGTCA:T | acceptor_gain | 1.0000 |
| 5:90399547:TCA:T | acceptor_gain | 1.0000 |
| 5:90399548:CA:C | acceptor_gain | 1.0000 |
| 5:90399548:CAC:C | acceptor_gain | 1.0000 |
| 5:90399550:C:CC | acceptor_gain | 1.0000 |
| 5:90405680:CACA:C | donor_loss | 1.0000 |
| 5:90405682:CACC:C | donor_loss | 1.0000 |
| 5:90405683:A:AC | donor_gain | 1.0000 |
| 5:90405684:C:CC | donor_gain | 1.0000 |
| 5:90405684:C:CT | donor_loss | 1.0000 |
| 5:90405684:CCAA:C | donor_gain | 1.0000 |
| 5:90405687:A:AC | donor_gain | 1.0000 |
| 5:90405688:C:CC | donor_gain | 1.0000 |
| 5:90405690:T:TA | donor_gain | 1.0000 |
| 5:90405795:GCCAC:G | acceptor_gain | 1.0000 |
| 5:90405796:CCAC:C | acceptor_gain | 1.0000 |
| 5:90405796:CCACC:C | acceptor_gain | 1.0000 |
| 5:90405797:CACC:C | acceptor_gain | 1.0000 |
| 5:90405799:CCTT:C | acceptor_loss | 1.0000 |
| 5:90405799:CCTTT:C | acceptor_gain | 1.0000 |
| 5:90405801:T:A | acceptor_loss | 1.0000 |
| 5:90405801:T:C | acceptor_gain | 1.0000 |
| 5:90405801:T:TC | acceptor_gain | 1.0000 |
| 5:90405803:T:C | acceptor_gain | 1.0000 |
| 5:90405803:T:TC | acceptor_gain | 1.0000 |
| 5:90405808:T:C | acceptor_gain | 1.0000 |
AlphaMissense
1134 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:90405780:C:T | G58E | 1.000 |
| 5:90405781:C:A | G58W | 1.000 |
| 5:90394091:G:C | F159L | 0.999 |
| 5:90394091:G:T | F159L | 0.999 |
| 5:90394092:A:G | F159S | 0.999 |
| 5:90394093:A:G | F159L | 0.999 |
| 5:90399402:A:G | L139P | 0.999 |
| 5:90399438:G:T | A127D | 0.999 |
| 5:90399439:C:G | A127P | 0.999 |
| 5:90399441:A:T | V126D | 0.999 |
| 5:90399444:C:G | R125P | 0.999 |
| 5:90399450:A:G | L123S | 0.999 |
| 5:90399465:A:C | I118R | 0.999 |
| 5:90399465:A:G | I118T | 0.999 |
| 5:90399465:A:T | I118K | 0.999 |
| 5:90399488:A:C | F110L | 0.999 |
| 5:90399488:A:T | F110L | 0.999 |
| 5:90399490:A:G | F110L | 0.999 |
| 5:90399492:A:G | L109P | 0.999 |
| 5:90399497:A:C | F107L | 0.999 |
| 5:90399497:A:T | F107L | 0.999 |
| 5:90399498:A:G | F107S | 0.999 |
| 5:90399499:A:G | F107L | 0.999 |
| 5:90405696:A:G | F86S | 0.999 |
| 5:90405780:C:A | G58V | 0.999 |
| 5:90405781:C:G | G58R | 0.999 |
| 5:90405781:C:T | G58R | 0.999 |
| 5:90405795:G:T | A53E | 0.999 |
| 5:90405796:C:G | A53P | 0.999 |
| 5:90407745:A:G | L36P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000037514 (5:90393268 C>G), RS1000156640 (5:90400739 G>A), RS1000223089 (5:90408463 A>G,T), RS1000434154 (5:90397271 A>G), RS1000455198 (5:90397576 T>C), RS1000527948 (5:90406351 T>C), RS1000638146 (5:90391813 G>A), RS1000733844 (5:90401217 G>C), RS1000756068 (5:90398945 A>G), RS1001161121 (5:90400569 T>C), RS1001345871 (5:90393295 C>T), RS1001555780 (5:90396746 A>C), RS1001592001 (5:90397102 C>T), RS1001783143 (5:90408059 C>A), RS1001798760 (5:90400283 A>C)
Disease associations
OMIM: gene MIM:602907 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000478_3 | Type 2 diabetes | 7.000000e-07 |
| GCST005790_49 | Rosacea symptom severity | 7.000000e-06 |
| GCST90011900_56 | Serum alkaline phosphatase levels | 4.000000e-17 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009180 | rosacea severity measurement |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Ethanol | affects cotreatment, increases abundance, decreases expression | 2 |
| Valproic Acid | increases expression, affects expression, decreases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases expression, increases abundance, affects cotreatment | 1 |
| arsenite | increases reaction, affects binding | 1 |
| methylparaben | affects splicing, increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| azoxystrobin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | decreases expression | 1 |
| bisphenol S | increases expression, affects cotreatment | 1 |
| Rosiglitazone | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Acrolein | increases expression, increases abundance, affects cotreatment | 1 |
| Antimycin A | decreases expression | 1 |
| Cisplatin | affects expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Estradiol | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.